Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000398468 [[73429385, 73430176], [73435527, 73435742], [73437898, 73439641]] [[73429794, 73430176], [73435527, 73435742], [73437898, 73438057]]
NM_001134462 [[73429385, 73430176], [73435527, 73435742], [73437898, 73438340]] [[73429794, 73430176], [73435527, 73435742], [73437898, 73438057]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I073202 73202032 73203713 0.54 [{'connected_gene': 'NOTO', 'score': 550.77}, {'connected_gene': 'PRADC1', 'score': 11.85}, {'connected_gene': 'SMYD5', 'score': 6.73}, {'connected_gene': 'GC02P073186', 'score': 0.37}]
chr2 GH02I073212 73212513 73213203 0.82 [{'connected_gene': 'SMYD5', 'score': 550.77}, {'connected_gene': 'PRADC1', 'score': 20.15}, {'connected_gene': 'CCT7', 'score': 17.49}, {'connected_gene': 'RAB11FIP5', 'score': 10.7}, {'connected_gene': 'SFXN5', 'score': 10.16}, {'connected_gene': 'SPR', 'score': 10.0}, {'connected_gene': 'NOTO', 'score': 0.39}]
chr2 GH02I073175 73175043 73178265 1.56 [{'connected_gene': 'SMYD5', 'score': 21.01}, {'connected_gene': 'ALMS1', 'score': 14.1}, {'connected_gene': 'DUSP11', 'score': 13.27}, {'connected_gene': 'SFXN5', 'score': 12.86}, {'connected_gene': 'PRADC1', 'score': 11.86}, {'connected_gene': 'NOTO', 'score': 11.63}, {'connected_gene': 'SPR', 'score': 11.18}, {'connected_gene': 'ENSG00000273245', 'score': 11.14}, {'connected_gene': 'EMX1', 'score': 10.46}, {'connected_gene': 'CCT7', 'score': 5.09}, {'connected_gene': 'EGR4', 'score': 1.45}, {'connected_gene': 'GC02P073186', 'score': 0.44}, {'connected_gene': 'RAB11FIP5', 'score': 0.37}]
chr2 GH02I073191 73191133 73192599 0.79 [{'connected_gene': 'SMYD5', 'score': 21.9}, {'connected_gene': 'RAB11FIP5', 'score': 11.24}, {'connected_gene': 'PRADC1', 'score': 11.02}, {'connected_gene': 'SFXN5', 'score': 10.97}, {'connected_gene': 'SPR', 'score': 9.87}, {'connected_gene': 'EMX1', 'score': 9.82}, {'connected_gene': 'CCT7', 'score': 4.99}, {'connected_gene': 'GC02P073186', 'score': 0.44}, {'connected_gene': 'NOTO', 'score': 0.39}]
chr2 GH02I073239 73239622 73239681 0.5 [{'connected_gene': 'PIR47890', 'score': 550.77}, {'connected_gene': 'CCT7', 'score': 550.44}, {'connected_gene': 'NOTO', 'score': 11.08}]